Mutation Details for c.-812T>G

cDNA Name

c.-812T>G

Exon or Intron

promoter

Legacy Exon or Intron

promoter and 5' UTR

Legacy Name

-741T->G

Other Details

This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.

Contributors

Bienvenu T,
Cazaneuve C,
Kaplan JC,
Beldjor C
1993-10-08

Institute

Hopitaux de Paris
Paris, France

Submitted Phenotype Details

The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)

Reference

Bienvenu et al. (NL#59)

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The Database was last updated at Apr 25, 2011